A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.

A case with an indolent course of subcutaneous panniculitis-like T-cell lymphoma demonstrating Epstein-Barr virus positivity and simulating dermatitis artefacta.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare form of cytotoxic T-cell lymphoma. The disease has a poor prognosis in patients with the complication of hemophagocytic syndrome, especially in those with Epstein-Barr virus (EBV) positivity. A 20-year-old woman presented with multiple, itchy, purplish nodules and excoriations on both of her upper limbs. The histopathologic, immunohistochemical staining, and clonal T-cell receptor gene rearrangement examinations of skin lesions revealed the diagnosis of SPTCL. In situ hybridization performed for EBV was positive. There were no findings suggesting systemic involvement of SPTCL, or hemophagocytic syndrome. The lesions improved with systemic corticosteroid therapy and radiotherapy, with no recurrence. We present a patient with a protracted course of SPTCL in whom EBV positivity was demonstrated. This apparent conflict may be explained by geographic and ethnic variations in EBV infection. Further studies may shed light on the real relationship between EBV-RNA and the course of SPTCL.

Uncommon presentation of mycosis fungoides: eyelid margin involvement.

Mycosis fungoides is a cutaneous T-cell lymphoma that has been rarely reported to involve ocular structures. A 33-year-old woman who had received therapy for mycosis fungoides on the trunk for 11 years, presented to our clinic with new plaques and tumors on her eyebrows and eyelid margin, and alopecia of her eyelashes and eyebrow. The histopathological examinations supported the diagnosis of mycosis fungoides. There was no intraocular involvement with tumor. The mycosis fungoides was of stage II B, and the patient was referred to medical oncology and radiation oncology clinics for treatment. She was placed on a radiotherapy schedule. The involvement of mycosis fungoides in the ocular area is rare in the published work. The importance of eye involvement is being seen in advanced cases, and there is a possible association between mycosis fungoides and poor prognosis by being an indicator of systemic involvement.

Xeroderma pigmentosum: a Turkish case series.

BACKGROUND: Xeroderma pigmentosum (XP) is a rare, autosomal recessive genodermatosis in which affected individuals exhibit sun sensitivity, cutaneous pigment abnormalities, and a high incidence of skin cancers of sun-exposed skin. METHODS: We studied the clinical features of 12 XP patients from Turkey, who were followed for 5 years. RESULTS: Consanguinity was confirmed in 10 cases. The onset of hyperpigmented macules and photosensitivity was between the ages of 6 months and 5 years (average age, 25 months). The first appearance of cutaneous tumors was at 3-28 years of age (average age, 12 years). In nine of the 12 patients, cutaneous malignancies were confirmed histopathologically, and all nine were squamous cell carcinomas. One patient developed both squamous cell carcinoma and malignant melanoma. CONCLUSIONS: This study presents the epidemiological and clinical features of Turkish XP patients. We believe this study will provide new data for further studies in the future.

Epidermodysplasia verruciformis associated with isolated IgM deficiency.

A 20 year-old man presented to our clinic with multiple warts on both hands and tumoral lesions on his face but otherwise healthy. On dermatological examination, numerous brown-black papular lesions, changing from 2 to 5 cm in diameter were found on his face along with multiple, flesh-coloured, flat-topped papules on the dorsa of his hands. A tumoral lesion, approximately 3 cm in diameter on the right side of his forehead and desquamated erythematous macules were also observed on the trunk. Laboratory investigations showed that serum immunoglobulin M (IgM) level was decreased. The histopathological examination of verrucous lesions on the hands was consistent with epidermodysplasia verruciformis and the histopathological diagnosis of the tumoral lesion was squamous cell carcinoma.

Scrofuloderma: a forgotten disease?

A 30-year-old woman was evaluated in our clinic with swelling localized to the left submandibular region and extending to the anterior part of the neck. Her symptoms first appeared 2 years earlier in the mid region of her neck. After a few months, the lesion enlarged to the left side of her neck and became crusted. She had been treated by several physicians with antibiotics, analgesics, and anti-inflammatory drugs without response. On physical examination, the patient had an axillary temperature of 38.2 degrees C. Bilateral axillary, cervical, and supraclavicular lymph nodes were detected. Dermatologic examination revealed erythematous nodules of varying sizes starting at the middle of the neck and extending to the left cervical region; an ulcerated lesion on the mid portion of the neck; and a sinus tract in the left cervical region (Figure 1). Laboratory findings included an erythrocyte sedimentation rate of 62 mm/h, but no irregularities were detected in the other hematologic and biochemical parameters. The results were negative for hepatitis markers, human immunodeficiency virus, and syphilis. A purified protein derivative test revealed an 18-mm induration with a scar of bacilli Calmette-Guérin at 48 hours. Results of chest radiography were normal, but a computerized tomographic scan of the lung revealed emphysematous changes. Acid-fast bacilli examination of the sputum was performed 3 times, all with negative results, and sputum cultures were negative for tuberculosis and deep fungal infections. Results of polymerase chain reaction testing of skin tissue, sputum, and urine were negative as well. Abdominal and pelvic ultrasonographic finding were normal; no tuberculous focus was detected from detailed examinations of pulmonary, genitourinary, and skeletal systems. Staining of a biopsy specimen obtained from lesions in the cervical region was positive for acid-fast bacilli, and cultures were positive for Mycobacterium tuberculosis. The histopathologic features of the biopsy specimen included caseation necrosis at the center and epithelioid histiocytes, lymphocytes, plasma cells, and Langhans cells at the periphery of the granulomas (Figure 2). These findings confirmed the diagnosis of scrofuloderma. The patient received multiagent (isoniazid, rifampicin, ethambutol, and pyrazinamide) antituberculosis treatment for 3 months. The treatment was continued with isoniazid, rifampicin, and ethambutol for 1 year, with follow-up clinic visits throughout the period. The lesions improved within the first 3 months of treatment (Figure 3).

Skin findings in internal malignant diseases.

PURPOSE: A skin finding may be an indicator of internal malignant diseases. In this report, we investigated the skin findings of the cases who have had internal malignancy within the last 1 month. PATIENTS AND METHODS: Seven hundred cases who were diagnosed as internal malignancy and who did not have any treatment for the malignancy were enrolled in our study between February 2002 and September 2003. A form was completed for all of the cases, including name, surname, and the carcinoma type. All cases were examined in detail, and the observed skin findings or dermatosis was recorded. RESULTS: The most frequent skin findings among the cases were tinea pedis/onychomycosis, followed by xerosis and pruritus. The skin findings in terms of frequency were determined mostly in hematological malignancies (68.96%). CONCLUSION: We would like to emphasize that the skin is an indicator of the functions of internal organs and their disorders.